G41E (p.Gly41Glu) variant of AGL (Glycogen debranching enzyme)
G41E (p.Gly41Glu) in AGL (Glycogen debranching enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glycogen storage disease type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- rs1468075770
- ClinGen CA341329115
- ClinVar RCV002895756
- ClinVar RCV002908516
- Uncertain significance
- Inborn genetic diseases; Glycogen storage disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.34
- MetaSVM -0.24
- CADD 26.60
- ClinVar: Uncertain significance (Inborn genetic diseases; Glycogen storage disease type III)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Glycogen Storage Disease Type III. (PMID 20301788)
- Cited in: Glycogen storage disease type III diagnosis and management guidelines. (PMID 20631546)